Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth
Published in Nature communications (05.02.2021)
Published in Nature communications (05.02.2021)
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Discovery of novel genetic syndromes in Latin America: Opportunities and challenges
Faundes, Víctor, Repetto, Gabriela M, Valdivia, Leonardo E
Published in Genetics and molecular biology (01.01.2024)
Published in Genetics and molecular biology (01.01.2024)
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
Poli, M. Cecilia, Rebolledo-Jaramillo, Boris, Lagos, Catalina, Orellana, Joan, Moreno, Gabriela, Martín, Luz M., Encina, Gonzalo, Böhme, Daniela, Faundes, Víctor, Zavala, M. Jesús, Hasbún, Trinidad, Fischer, Sara, Brito, Florencia, Araya, Diego, Lira, Manuel, de la Cruz, Javiera, Astudillo, Camila, Lay-Son, Guillermo, Cares, Carolina, Aracena, Mariana, Martin, Esteban San, Coban-Akdemir, Zeynep, Posey, Jennifer E., Lupski, James R., Repetto, Gabriela M.
Published in European journal of human genetics : EJHG (04.01.2024)
Published in European journal of human genetics : EJHG (04.01.2024)
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Raine syndrome: An overview
Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry
Published in European journal of medical genetics (01.09.2014)
Published in European journal of medical genetics (01.09.2014)
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Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
Medina, María Fernanda, Castro, Gabriela, Falcon, Felipe, Cabello, Juan Francisco, Faundes, Víctor, Ruffato, Diana, Salazar, María Florencia, Arias, Carolina, Peñaloza, Felipe, De La Parra, Alicia, Cornejo, Verónica
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee
Adams, David R., van Karnebeek, Clara D.M., Agulló, Sergi Beltran, Faùndes, Víctor, Jamuar, Saumya Shekhar, Lynch, Sally Ann, Pintos-Morell, Guillem, Puri, Ratna Dua, Shai, Ruty, Steward, Charles A., Tumiene, Biruté, Verloes, Alain
Published in European journal of medical genetics (01.08.2024)
Published in European journal of medical genetics (01.08.2024)
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FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.
Published in Scientific reports (16.07.2020)
Published in Scientific reports (16.07.2020)
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Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, Elliott, David J.
Published in Genetics in medicine (01.04.2023)
Published in Genetics in medicine (01.04.2023)
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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Baker, Emma K., Arpone, Marta, Bui, Minh, Kraan, Claudine M., Ling, Ling, Francis, David, Hunter, Mathew F., Rogers, Carolyn, Field, Michael J., Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
Aliaga, Solange M, Slater, Howard R, Francis, David, Du Sart, Desiree, Li, Xin, Amor, David J, Alliende, Angelica M, Santa Maria, Lorena, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E
Published in Clinical chemistry (Baltimore, Md.) (01.02.2016)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2016)
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Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile
Cárdenas, José Miguel, Vergara, Diane, Witting, Scarlet, Balut, Fernanda, Guerra, Patricio, Mesa, José Tomás, Silva, Sebastián, Tello, Javiera, Retamales, Alvaro, Barrios, Andrés, Pinto, Fernando, Faundes, Víctor, Troncoso, Mónica
Published in Molecular syndromology (01.10.2023)
Published in Molecular syndromology (01.10.2023)
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Journal Article
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Baker, Emma K, Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M, Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael J, Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Journal of neurodevelopmental disorders (26.12.2019)
Published in Journal of neurodevelopmental disorders (26.12.2019)
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Journal Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Baker, Emma K, Arpone, Marta, Aliaga, Solange M, Bretherton, Lesley, Kraan, Claudine M, Bui, Minh, Slater, Howard R, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Molecular autism (03.05.2019)
Published in Molecular autism (03.05.2019)
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Journal Article
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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